Med23^tm2.1Ics
Targeted Allele Detail

Summary

• Symbol: Med23^tm2.1Ics
• Name: mediator complex subunit 23; targeted mutation 2.1, Mouse Clinical Institute
• MGI ID: MGI:7616385
• Synonyms: Med23^R617Q, Med23^{tm2.1(R614Q)Ics}
• Gene: Med23 Location: Chr10:24745889-24789358 bp, + strand Genetic Position: Chr10, Syntenic
• Alliance: Med23^tm2.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: BD10 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Arginine codon 614 (CGA) in exon 16 was changed to glutamine (CAA) (p.R614Q). A loxP site, a neomycin resistance gene cassette, an FRT site flanked auto-excision protamine-cre cassette and a second loxP site were inserted into intron 16. The mutation is the equivalent of the human p.R617Q mutation associated with autosomal recessive intellectual disability 18. (J:342743)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Med23 Mutation: 75 strains or lines available

References

• Original: J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
• All: 1 reference(s)